Cargando…

Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics

Laminin-α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating neuromuscular disease caused by mutations in the LAMA2 gene. These mutations result in the complete absence or truncated expression of the laminin-α2 chain. The α2-chain is a major component of the laminin-211 and laminin-...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barraza-Flores, Pamela, Bates, Christina R., Oliveira-Santos, Ariany, Burkin, Dean J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026472/ https://www.ncbi.nlm.nih.gov/pubmed/32116540 http://dx.doi.org/10.3389/fnmol.2020.00001

Ejemplares similares

Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy
por: Oliveira-Santos, Ariany, et al.
Publicado: (2023)

Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD
por: Barraza-Flores, Pamela, et al.
Publicado: (2020)

Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)
por: Fabian, Lacramioara, et al.
Publicado: (2020)

Levels of α7 integrin and laminin-α2 are increased following prednisone treatment in the mdx mouse and GRMD dog models of Duchenne muscular dystrophy
por: Wuebbles, Ryan D., et al.
Publicado: (2013)

LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy
por: Christen, Matthias, et al.
Publicado: (2021)

Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models
por: Arreguin, Andrea J., et al.
Publicado: (2020)

Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology
por: Accorsi, Anthony, et al.
Publicado: (2020)

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)
por: Jayakody, Himali, et al.
Publicado: (2020)

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion
por: Shelton, G. Diane, et al.
Publicado: (2021)

CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy
por: Arockiaraj, Annie I., et al.
Publicado: (2023)

Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-α2 Related Congenital Muscular Dystrophy
por: Willmann, Raffaella, et al.
Publicado: (2017)

Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
por: Hashemi-Gorji, Feyzollah, et al.
Publicado: (2018)

Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy
por: Ge, Lin, et al.
Publicado: (2018)

Human Galectin-1 Improves Sarcolemma Stability and Muscle Vascularization in the mdx Mouse Model of Duchenne Muscular Dystrophy
por: Wuebbles, Ryan D., et al.
Publicado: (2019)

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy
por: Zhou, Jing, et al.
Publicado: (2018)

Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation
por: Borella, Luiz Fernando Monte, et al.
Publicado: (2021)

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy
por: Chausova, P. A., et al.
Publicado: (2021)

Enhanced Expression of the α7β1 Integrin Reduces Muscular Dystrophy and Restores Viability in Dystrophic Mice
por: Burkin, Dean J., et al.
Publicado: (2001)

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients
por: Tran, Van Khanh, et al.
Publicado: (2023)

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity
por: Jones, Takako I., et al.
Publicado: (2020)

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report
por: AMIN, MUTAZ, et al.
Publicado: (2019)

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
por: Diaz-Lombana, Natalia, et al.
Publicado: (2023)

A Family of Laminin α2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD
por: Gawlik, Kinga I., et al.
Publicado: (2020)

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
por: Sardone, Francesca, et al.
Publicado: (2016)

Commentary: SU9516 increases α7β1 Integrin and Ameliorates Disease Progression in the mdx Mouse Model of Duchenne Muscular Dystrophy
por: Sarathy, Apurva, et al.
Publicado: (2017)

Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD
por: Moreira Soares Oliveira, Bernardo, et al.
Publicado: (2017)

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort
por: Zambon, Alberto A., et al.
Publicado: (2020)

Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN linker protein
por: McKee, Karen K., et al.
Publicado: (2022)

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
por: Sarkozy, Anna, et al.
Publicado: (2020)

An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies
por: Sabry, Sahar, et al.
Publicado: (2023)

Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin
por: Qiao, Chunping, et al.
Publicado: (2018)

Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy
por: KHODAENIA, Negar, et al.
Publicado: (2021)

Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy
por: Reinhard, Judith R, et al.
Publicado: (2023)

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene
por: Xu, Yuqing, et al.
Publicado: (2023)

LAMA2-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study
por: Bouman, Karlijn, et al.
Publicado: (2023)

Antioxidants Reduce Muscular Dystrophy in the dy(2J)/dy(2J) Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy
por: Harandi, Vahid M., et al.
Publicado: (2020)

A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report
por: Tran, Kien Trung, et al.
Publicado: (2020)

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy
por: Nguyen, Quynh, et al.
Publicado: (2019)

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
por: Dimova, Ivanka, et al.
Publicado: (2018)

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
por: Tan, Dandan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_f1k3qpaa7fccrjmtroc95t80q5